We aimed to comprehensively analyse the available literature to identify the unmet requirements in transitional programs tailored specifically for patients diagnosed with JIA.
We report two cases of Leprechaunism with the classical features. The first case had hyperglycemia and severe hyperinsulinemia. The postmortem examination of the second child revealed enlargement of both ovaries, islet cell hyperplasia in the pancreas, and cholestasis and paucity of bile ducts in the liver. Cystic changes were noted in the ovaries, and the kidneys contained a few small cortical cysts. Both patients died at early ages.
Amaç
Çocukluk çağında en sık hastane başvuru nedenlerinden biri karın ağrısıdır. Amacımız genel pediatri polikliniklerinden karın ağrısı nedeniyle çocuk gastroenteroloji ve romatoloji polikliniklerine yönlendirilen hastaların özelliklerini değerlendirmektir.
Yöntem
Karın ağrısı nedeni ile genel pediatri polikliniklerinden Çocuk Gastroenteroloji veya Çocuk Romatoloji polikliniklerine yönlendirilen hastalar elektronik sistemden tarandı. Çalışmaya başvuru dışında en az 1 kez kontrol vizit yapılmış, 18 yaş altı hastalar dahil edildi. Dahil edilen hasta sayısı 209’du. Hastaların klinik özellikleri, laboratuvar sonuçları, son tanıları ve tedavileri yönlendirilen kliniğe göre incelendi.
Bulgular
Hastaların yaş ortalaması 10,95±4,73 yıl ve median 11 yıl (1,42-18 yıl) idi. Hastaların 115’i (%55) kızdı. Karın ağrısı başlangıç süresi medyan değeri 12 aydı ve 5 gün-10 yıl arasındaydı. 117 hasta (%56) yalnızca çocuk gastroenteroloji polikliniğine, 43 hasta (%20,6) yalnızca Çocuk Romatoloji polikliniğine, 49 hasta (%23,4) ise her ikisine yönlendirilmişti. Hastaların 125’inde (%59,8) karın ağrısı her gündü ve 106’ında (%50,7) ağrı 1 saatten kısa süreliydi. Ağrı 86’ında (%41,1) yaygın, 67’inde (%32,1) periumblikal, 36’ında (%17,2) epigastrik yerleşimliydi. En sık eşlik eden semptom 94’ünde (%45) yemeklerle artan ağrıydı. Ateş, eklem bulgusu, döküntü, miyalji, oral aft, tonsilit, ailede ailevi Akdeniz ateşi (AAA) varlığı yalnızca Çocuk Gastroenteroloji polikliniğine yönlendirilen anlamlı olarak azdı (p
Epidermolysis bullosa (EB) encompasses a clinically and genetically heterogeneous group of rare inherited diseases characterized by marked mechanical fragility of epithelial tissues with blistering and erosions following minor trauma. Amyloidosis is one of the most important complications of EB mostly seen in recessive dystrophic EB (RDEB) patients and can involve the kidney, bowel, liver, and also respiratory system. Herein, we present a child, who is probably the youngest case of genetically diagnosed RDEB, complicated with amyloidosis reported in literature. A 6-year-old boy who was diagnosed with EB was referred to our center with nephrotic-range proteinuria and hypoalbuminemia. He had homozygous mutation in COL7A1 gene. Kidney biopsy was remarkable for amyloidosis with positive Congo red staining, and amyloid fibrils were seen on electron microscopy. Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.
The effects of biological disease-modifying antirheumatic drugs (bDMARDs) in the clinical course of COVID-19 on children with underlying rheumatologic diseases have not been fully demonstrated. To evaluate the course of COVID-19 infection in patients with rheumatic disease receiving bDMARD treatment. This was a retrospective, multicenter study conducted in pediatric patients infected by SARS-CoV-2 and under bDMARDs therapy. The study population consisted of 113 patients (72 female/41 male). The mean age of the patients was 12.87 ± 4.69 years. The primary diagnosis of the cohort was as follows: 63 juvenile idiopathic arthritis, 35 systemic autoinflammatory diseases, 10 vasculitides, and five cases of connective tissue diseases. The mean duration of the primary disease was 4.62 ± 3.65 years. A total of 19 patients had additional comorbid diseases. Thirty-five patients were treated with canakinumab, 25 with adalimumab, 18 with etanercept, 10 with infliximab, nine with tocilizumab, six with rituximab, four with anakinra, three with tofacitinib, and one with abatacept. The median exposure time of the biological drug was 13.5 months. Seventy-one patients had symptomatic COVID-19, while 42 were asymptomatic. Twenty-four patients required hospitalization. Five patients presented with MIS-C. The hospitalized patients were younger and had a shorter duration of rheumatic disease compared to ambulatory patients, although the difference was not statistically significant. Steroid usage, presence of fever, and dyspnea were more common among the hospitalized patients. A worsening in the course of both COVID-19 and current disease was not noticed under bDMARDs, however, to end with a strong conclusion multicentric international studies are required.